OBJECTIVES: The identification of disease-specific genetic and electrophysiological patterns for myotonia congenital (MC) could help clinicians apply in the findings of genetic studies to improve diagnosis. We examined the molecular, clinical, and histopathological characteristics of eight patients with MC. METHODS: Optimization PCR was used to exclude myotonic dystrophies and the CLCN1 gene was sequenced in patients having clinical and electrophysiological features indicative of MC...

Cervical dystonia is a syndrome characterized by anomalous postures and unintentional repetitive movements of the head and the neck. Aim of this study is to show the effectiveness of the combined treatment botulinum toxin-FKT through the use of a recent methodic of investigation, myoton, and of the classical clinical evaluations, such as Tsui and VAS scales. 15 patients (9 females, 6 males) have been selected. During the initial visit and in the following controls, performed every month, patients have been submitted to physiatric examination, clinical evaluation of the dystonia through the Tsui scale, clinical evaluation of the pain through the VAS scale, myometric evaluation...

OBJECTIVE: We investigated genetic variants predictive of muscular side effects in patients treated with statins. We utilized a physiogenomic approach to prototype a multi-gene panel correlated with statin-induced myalgia. BACKGROUND: Statin-induced myalgia occurs in ∼10% of lipid clinic outpatients. Its clinical manifestation may depend in part upon gene variation from patient to patient. METHODS: We genotyped 793 patients (377 with myalgia and 416 without) undergoing statin therapy at four U...

Camptocormia, also referred to as bent spine syndrome (BSS) is defined as an abnormal flexion of the trunk, appearing in standing position, increasing during walking and abating in supine position. BSS was initially considered, especially in wartime, as a psychogenic disorder. It is now recognized that in addition to psychiatric syndromes, many cases of reducible BSS have a somatic origin related to a number of musculo-skeletal or neurological disorders. The majority of BSS of muscular origin is related to a primary idiopathic axial myopathy of late onset, appearing progressively in elderly patients...

OBJECTIVE: The aim of the study was to determine whether 'clouds' from turns amplitude analysis obtained from the orbicularis oculi and oris muscles without force monitoring can be used to differentiate pathological processes affecting the face. METHODS: The interference pattern from orbicularis oculi and orbicularis oris was studied using a concentric needle electrode. Data-points from 20 normal subjects were plotted on a logarithmic scale of mean amplitude between turns versus turns/second, from which linear regression analysis defined the 95% confidence intervals...

The review covers selected research topics in fields of medical and ethnic genomics tackled at the Department of Molecular Basis of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson's disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.

INTRODUCTION: The main function of ionic channels are the conduction, recognition and selection of specific ions. They open and close in respond answer to electrical, mechanical and chemical stimulus, acting in the excitation or transmission of diverse tissues. DEVELOPMENT: The clinical and molecular manifestations of channelophathies are varied and use to shown up in continuous or paroxystic ways. Alteration of Ca channels cause muscle dysfunction periodic paralysis with or without potassium changes, myasthenia or myasthenic disorders, like Lambert Eaton syndrome, amyotrophic lateral sclerosis, Central Core disease, malignant hyperthermia...

Three important dominantly-inherited neurological diseases were discovered to be particularly common among various Jewish ethnic groups. For idiopathic torsion dystonia (ITD), previously thought to be recessively transmitted among Ashkenazi Jews, we have established an autosomal dominant mode of inheritance. This finding resulted from a country-wide survey of ITD in Israel and its subsequent genetic analysis. In Creutzfeldt-Jakob disease (CJD) the focus among Libyan Jews was previously thought to be related to culinary habits; a point mutation of the prion-protein gene was first described by us...